Incidental Mutation 'R7971:Pmpca'
| ID |
650590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmpca
|
| Ensembl Gene |
ENSMUSG00000026926 |
| Gene Name |
peptidase (mitochondrial processing) alpha |
| Synonyms |
4933435E07Rik, INPP5E, Alpha-MPP |
| MMRRC Submission |
046014-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R7971 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26279351-26287134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26283164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 352
(G352R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028293]
[ENSMUST00000076431]
[ENSMUST00000077983]
[ENSMUST00000114090]
[ENSMUST00000114093]
[ENSMUST00000114100]
[ENSMUST00000114102]
[ENSMUST00000139738]
[ENSMUST00000145701]
|
| AlphaFold |
Q9DC61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028293
|
| SMART Domains |
Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
209 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076431
AA Change: G352R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926
AA Change: G352R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
76 |
226 |
4.5e-47 |
PFAM |
|
Pfam:Peptidase_M16_C
|
231 |
430 |
4.1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077983
|
| SMART Domains |
Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
186 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114090
|
| SMART Domains |
Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
|
IPPc
|
300 |
602 |
1.27e-62 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114093
AA Change: G352R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109727
Gene: ENSMUSG00000026926
AA Change: G352R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
76 |
226 |
1.6e-47 |
PFAM |
|
Pfam:Peptidase_M16_C
|
231 |
420 |
9.6e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114100
|
| SMART Domains |
Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
236 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114102
|
| SMART Domains |
Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
259 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131109
|
| SMART Domains |
Protein: ENSMUSP00000118739
Gene: ENSMUSG00000026925
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Exo_endo_phos
|
4 |
88 |
6.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139738
|
| SMART Domains |
Protein: ENSMUSP00000121256
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145701
|
| SMART Domains |
Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
|
IPPc
|
300 |
602 |
1.27e-62 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
G |
A |
11: 81,754,526 (GRCm39) |
A16T |
unknown |
Het |
| Abcc1 |
T |
A |
16: 14,266,443 (GRCm39) |
D880E |
probably benign |
Het |
| Adamts2 |
G |
A |
11: 50,647,523 (GRCm39) |
V299I |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,186,578 (GRCm39) |
S1331P |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,661 (GRCm39) |
L1968S |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,976,409 (GRCm39) |
M277L |
possibly damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,391 (GRCm39) |
Y91* |
probably null |
Het |
| Cfap46 |
A |
G |
7: 139,215,043 (GRCm39) |
S1561P |
unknown |
Het |
| Clasp1 |
C |
T |
1: 118,449,559 (GRCm39) |
R647W |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,468,933 (GRCm39) |
V299A |
probably benign |
Het |
| Csk |
C |
A |
9: 57,535,970 (GRCm39) |
G260V |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dgkg |
G |
A |
16: 22,388,966 (GRCm39) |
Q403* |
probably null |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,119 (GRCm39) |
D314G |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,376,499 (GRCm39) |
L1428Q |
probably damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,537,703 (GRCm39) |
V293A |
probably benign |
Het |
| Gm4353 |
C |
A |
7: 115,682,747 (GRCm39) |
S278I |
possibly damaging |
Het |
| Hmgb2 |
A |
G |
8: 57,966,168 (GRCm39) |
M75V |
possibly damaging |
Het |
| Hoxa4 |
G |
A |
6: 52,168,711 (GRCm39) |
|
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,298,976 (GRCm39) |
W877R |
unknown |
Het |
| Ifi44 |
T |
A |
3: 151,454,857 (GRCm39) |
I123F |
possibly damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,908,353 (GRCm39) |
Y323C |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,351,631 (GRCm39) |
T858A |
probably benign |
Het |
| Mest |
T |
A |
6: 30,740,734 (GRCm39) |
I38N |
|
Het |
| Npy2r |
A |
T |
3: 82,448,175 (GRCm39) |
I200N |
probably damaging |
Het |
| Olfm4 |
T |
A |
14: 80,259,240 (GRCm39) |
M496K |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,831,794 (GRCm39) |
|
probably null |
Het |
| Omd |
A |
T |
13: 49,743,730 (GRCm39) |
H260L |
probably benign |
Het |
| Or8c16 |
G |
T |
9: 38,130,843 (GRCm39) |
L238F |
probably benign |
Het |
| Pigk |
C |
A |
3: 152,450,176 (GRCm39) |
Q274K |
probably benign |
Het |
| Prex1 |
C |
T |
2: 166,423,859 (GRCm39) |
S1181N |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,079,873 (GRCm39) |
F762Y |
probably damaging |
Het |
| Rcc1l |
A |
G |
5: 134,194,208 (GRCm39) |
S250P |
probably damaging |
Het |
| Rufy1 |
A |
T |
11: 50,312,498 (GRCm39) |
F152Y |
probably damaging |
Het |
| Scaf1 |
T |
A |
7: 44,652,965 (GRCm39) |
T1179S |
unknown |
Het |
| Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
| Shroom3 |
C |
T |
5: 93,098,933 (GRCm39) |
S1471L |
probably damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,248,695 (GRCm39) |
L484P |
probably damaging |
Het |
| Slc35a1 |
T |
C |
4: 34,664,161 (GRCm39) |
D319G |
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,983 (GRCm39) |
E893G |
possibly damaging |
Het |
| Tatdn2 |
A |
G |
6: 113,687,235 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
A |
17: 84,580,197 (GRCm39) |
D1419V |
possibly damaging |
Het |
| Tmem87b |
A |
G |
2: 128,692,250 (GRCm39) |
D535G |
probably null |
Het |
| Tnfrsf25 |
A |
C |
4: 152,204,193 (GRCm39) |
Q378P |
probably damaging |
Het |
| Trim34a |
T |
C |
7: 103,897,025 (GRCm39) |
C30R |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,643,313 (GRCm39) |
S212P |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
|
| Other mutations in Pmpca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02164:Pmpca
|
APN |
2 |
26,285,581 (GRCm39) |
missense |
probably benign |
|
|
R0064:Pmpca
|
UTSW |
2 |
26,285,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0064:Pmpca
|
UTSW |
2 |
26,285,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0690:Pmpca
|
UTSW |
2 |
26,281,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0864:Pmpca
|
UTSW |
2 |
26,283,221 (GRCm39) |
splice site |
probably null |
|
|
R0893:Pmpca
|
UTSW |
2 |
26,283,230 (GRCm39) |
unclassified |
probably benign |
|
|
R1386:Pmpca
|
UTSW |
2 |
26,282,530 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4541:Pmpca
|
UTSW |
2 |
26,280,201 (GRCm39) |
unclassified |
probably benign |
|
|
R4580:Pmpca
|
UTSW |
2 |
26,283,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Pmpca
|
UTSW |
2 |
26,280,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Pmpca
|
UTSW |
2 |
26,285,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Pmpca
|
UTSW |
2 |
26,285,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5161:Pmpca
|
UTSW |
2 |
26,285,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5567:Pmpca
|
UTSW |
2 |
26,280,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5570:Pmpca
|
UTSW |
2 |
26,280,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6456:Pmpca
|
UTSW |
2 |
26,285,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Pmpca
|
UTSW |
2 |
26,285,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7249:Pmpca
|
UTSW |
2 |
26,285,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7251:Pmpca
|
UTSW |
2 |
26,285,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7252:Pmpca
|
UTSW |
2 |
26,285,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7827:Pmpca
|
UTSW |
2 |
26,280,144 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8461:Pmpca
|
UTSW |
2 |
26,285,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8558:Pmpca
|
UTSW |
2 |
26,285,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8671:Pmpca
|
UTSW |
2 |
26,285,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8674:Pmpca
|
UTSW |
2 |
26,285,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8717:Pmpca
|
UTSW |
2 |
26,281,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8737:Pmpca
|
UTSW |
2 |
26,283,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:Pmpca
|
UTSW |
2 |
26,283,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9181:Pmpca
|
UTSW |
2 |
26,283,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9600:Pmpca
|
UTSW |
2 |
26,282,598 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9621:Pmpca
|
UTSW |
2 |
26,279,988 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTCAGCCTTGGCCCAAC -3'
(R):5'- GAGGTTGCATTGTACATCCAGTG -3'
Sequencing Primer
(F):5'- TCACACACATCATGGTGGGACTG -3'
(R):5'- GCATTGTACATCCAGTGGTGCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation